Smrithi Salian

Smrithi Salian

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Smrithi Salian

Smrithi Salian

Publications by authors named "Smrithi Salian"

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9Publications

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Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.

Congenit Anom (Kyoto) 2019 Jan 16;59(1):26-27. Epub 2018 May 16.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cga.12285DOI Listing
January 2019

Pycnodysostosis: Novel Variants in and Occurrence of Giant Cell Tumor.

J Pediatr Genet 2018 Mar 13;7(1):9-13. Epub 2017 Jul 13.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.1055/s-0037-1604100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809170PMC
March 2018

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in Gene.

J Pediatr Genet 2017 Sep 7;6(3):177-180. Epub 2017 Mar 7.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1599201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548527PMC
September 2017

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

Congenit Anom (Kyoto) 2017 May;57(3):83-85

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1111/cga.12188DOI Listing
May 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

Focal Dermal Hypoplasia with a Mutation p.E300* of Gene in a Male Infant.

Indian J Dermatol 2016 Nov-Dec;61(6):700

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.4103/0019-5154.193712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302PMC
December 2016

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.

Indian J Dermatol 2016 Jan-Feb;61(1):122

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.4103/0019-5154.174134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763652PMC
March 2016

Familial 7q11.23 duplication with variable phenotype.

Am J Med Genet A 2015 Nov 24;167A(11):2727-30. Epub 2015 Jun 24.

Department of Pediatrics, Narayana Multispecialty Hospital, Bangalore, India.

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http://dx.doi.org/10.1002/ajmg.a.37226DOI Listing
November 2015